DESCRIPTION- Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.type 1 is by far the most common. Patients usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an large liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. another name for gaucher's disorder is Nonneuronopathic.
1.Enzyme replacement therapy.This approach replaces the deficient enzyme with synthetic enzymes 2. Bone marrow transplantation. This surgical procedure has been used for severe cases of Gaucher's disease 3. Medication (The oral medication miglustat (Zavesca) has been approved for use in people with Gaucher's disease.) 4. Pregnancy--
Although pregnancy may worsen the symptoms of Gaucher's disease, most women who have the disease can have a successful pregnancy. However, it's not clear if enzyme replacement should be continued during pregnancy. 5. Prognosis-- People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have close to normal life expectancies. Children whose illness begins during infancy generally don't live beyond the age of 2 years. However, children with type 3 who live into their teens often survive for many more years. http://www.mayoclinic.com/health/gauchers-disease/DS00972/DSECTION=treatments-and-drugs
THE DIFFERENT TYPES OF GAUCHER'S DISSORDER!@! type 1-ymptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. TYPE 2- usually causes life-threatening medical problems beginning in infancy. TYPE 3- also affects the nervous system, but tends to progress more slowly than type 2.
57 year old man with type 2
type 3 disorder, when the protein covers the DNA helix
HOW COMMON IS IT!!!!!
-Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population...... - This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage..... http://ghr.nlm.nih.gov/condition=gaucherdisease
QUESTION!!!!!
1. how many different types of Gaucher's disorder is there?
2. is there a cure for Gaucher's disorder? if so what is it and what do they have to do?
3. what are the differences from the types of Gaucher's disorder?
GAUCHER DISORDER!!!!! WILLIAM PAL =D
DESCRIPTION- Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.type 1 is by far the most common. Patients usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an large liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. another name for gaucher's disorder is Nonneuronopathic.
http://www.medicinenet.com/gaucher_disease/article.htm
TREATMENT!-
1.Enzyme replacement therapy.This approach replaces the deficient enzyme with synthetic enzymes2. Bone marrow transplantation. This surgical procedure has been used for severe cases of Gaucher's disease
3. Medication (The oral medication miglustat (Zavesca) has been approved for use in people with Gaucher's disease.)
4. Pregnancy--
Although pregnancy may worsen the symptoms of Gaucher's disease, most women who have the disease can have a successful pregnancy. However, it's not clear if enzyme replacement should be continued during pregnancy.
5. Prognosis--
People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have close to normal life expectancies. Children whose illness begins during infancy generally don't live beyond the age of 2 years. However, children with type 3 who live into their teens often survive for many more years.
http://www.mayoclinic.com/health/gauchers-disease/DS00972/DSECTION=treatments-and-drugs
THE DIFFERENT TYPES OF GAUCHER'S DISSORDER!@! type 1- ymptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. TYPE 2- usually causes life-threatening medical problems beginning in infancy. TYPE 3- also affects the nervous system, but tends to progress more slowly than type 2.
HOW COMMON IS IT!!!!!
-Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population...... - This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage..... http://ghr.nlm.nih.gov/condition=gaucherdisease
QUESTION!!!!!
1. how many different types of Gaucher's disorder is there?
2. is there a cure for Gaucher's disorder? if so what is it and what do they have to do?
3. what are the differences from the types of Gaucher's disorder?